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Ilia S.,University of Crete | Goulielmos G.N.,Laboratory of Molecular Medicine and Human Genetics | Samonis G.,University of Crete | Galanakis E.,University of Crete
Pediatric Infectious Disease Journal

BACKGROUND:: Genetic susceptibility has a major role in the pathogenesis of acute otitis media (AOM). In the present study, we investigated the variability of 5 cytokine genotypes as related to susceptibility and outcome of AOM in early infancy. METHODS:: Single nucleotide polymorphisms in IL-6 (-174 G→C), IL-10 (-592 C→A, -819 C→T and -1082 G→A), TNF-α (-308 G→A), IFN-γ (+874 A→T) and TGF-β1 (codon 10 C→T; codon 25 G→C) genes were investigated and related to clinical course and outcome in 96 infants younger than 9 months with AOM. RESULTS:: Compared with wild genotypes, IL-10 (-592, -819 and -1082) and TGF-β1 (codon 10) genotypes carrying the alternative allele were related to more AOM episodes (P < 0.0001, P < 0.0001, P < 0.0001 and P = 0.002, respectively) and the need for tympanostomy tubes. Furthermore, IL-10 (-1082) and TGF-β1 (codon 10) genotypes carrying the alternative allele were related to later onset of first AOM episode than wild-type genotypes (P = 0.007 and P = 0.039, respectively). No relationship was found about AOM complications. CONCLUSIONS:: Our findings suggest that IL-10 and TGF-β1 genotypes are related to the age of AOM onset, multiple AOM episodes and insertion of tympanostomy tubes, pointing to the involvement of anti-inflammatory cytokines in AOM during infancy. © 2014 Lippincott Williams and Wilkins. Source

Dimopoulou D.G.,Aristotle University of Thessaloniki | Zervou M.I.,Laboratory of Molecular Medicine and Human Genetics | Trachana M.,Aristotle University of Thessaloniki | Myrthianou E.,Laboratory of Molecular Medicine and Human Genetics | And 4 more authors.
Human Immunology

The strategy of studying the putative role of RA susceptibility genetic factors in the development of juvenile idiopathic arthritis (JIA), an autoimmune disease characterized by persistent chronic arthritis, has been proven highly successful so far. Moreover, accumulated evidence indicates that an ethnic heterogeneity of genetic factors exists for rheumatic disorders. We investigated whether five single nucleotide polymorphisms (SNPs), previously found to be associated with JIA in various populations so far, are also associated with JIA in Greece. The sample set consisted of 128 Caucasian JIA patients and 221 healthy controls from Northern Greece. Five Single Nucleotide Polymorphisms (SNPs) markers, namely TRAF1/C5 rs10818488, PTPN22 rs2476601, STAT4 rs7574865, CD247 rs1773560 and PTPN2 rs7234029 SNPs were genotyped in a case-control study with Restriction Fragment Length Polymorphisms (RFLPs) or Taqman primer-probe sets. This study demonstrated for the first time in a Greek population that the PTPN22, TRAF1/C5 and CD247 polymorphisms examined are associated with an increased susceptibility to JIA, thus suggesting that the respective risk alleles may confer susceptibility to clinically distinct disorders. However, our results did not demonstrate any association of STAT4 and PTPN2 SNPs with the disease in our population, thus highlighting the importance of comparative studies in different ethnic populations. © 2013 American Society for Histocompatibility and Immunogenetics. Source

Vazgiourakis V.M.,Laboratory of Molecular Medicine and Human Genetics | Zervou M.I.,Laboratory of Molecular Medicine and Human Genetics | Eliopoulos E.,Agricultural University of Athens | Sharma S.,University of Chicago | And 9 more authors.
Clinical and Experimental Rheumatology

Objectives: VEGFR2 gene polymorphisms have already been correlated with vascular diseases such as coronary heart disease (CHD) and may influence endothelial integrity, repair and function. In view of the premature atherosclerosis observed in SLE, we sought to clarify the structural/functional consequences of two common single nucleotide polymorphisms (SNPs) of VEGFR2 in SLE and determine whether they are associated with risk of SLE by influencing endothelial cells. Methods: Three-dimensional (3D) homology modelling was applied for the localisation of the V297I and the Q472H polymorphisms. Genotyping of the V297I (rs2305948) and Q472H (rs1870377) SNPs was done through Taqman technology in 250 SLE patients and 241 healthy controls from a Greek population (Cretan). The replication sample set for the rs1870377 SNP consisted of 253, 184 and 77 patients with SLE and 301, 118 and 11 ethnically-matched controls of African-American, European-American and Hispanic-American origin, respectively. Results: Modelling revealed that the V297I polymorphism may affect the efficiency of trans-autophosphorylation and cell signalling, while Q472H affects homotypic contacts of membrane proximal Ig-like domains. No significant allelic and genotypic association was observed for both the SNPs with risk of SLE. Conclusion: Although structural data suggest that both VEGFR2 SNPs may contribute to SLE pathogenesis by impairing VEGF signalling, none of the SNPs analysed was associated with increased susceptibility to SLE. However, they still may be relevant to the vascular damage/atherosclerosis in SLE. © Clinical and Experimental Rheumatology 2013. Source

Goulielmos G.N.,Laboratory of Molecular Medicine and Human Genetics | Zervou M.I.,Laboratory of Molecular Medicine and Human Genetics | Myrthianou E.,Laboratory of Molecular Medicine and Human Genetics | Burska A.,University of Leeds | And 2 more authors.

Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients. © 2016 Elsevier B.V. Source

Zervou M.I.,Laboratory of Molecular Medicine and Human Genetics | Myrthianou E.,Laboratory of Molecular Medicine and Human Genetics | Flouri I.,Clinical Immunology and Allergy | Plant D.,Manchester Academy of Health science | And 10 more authors.

Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. However, a significant subset of patients does not respond to anti-TNF agents, for reasons that are still unknown. The aim of this study was to validate five single nucleotide polymorphisms (SNPs) of PTPRC, CD226, AFF3, MyD88 and CHUK gene loci that have previously been reported to predict anti-TNF outcome. In addition, two markers of RA susceptibility, namely TRAF1/C5 and STAT4 were assessed, in a cohort of anti-TNF-treated RA patients, from the homogeneous Greek island of Crete, Greece. The RA patient cohort consisted of 183 patients treated with either of 3 anti-TNF biologic agents (infliximab, adalimumab and etanercept) from the Clinic of Rheumatology of the University Hospital of Crete. The SNPs were genotyped by TaqMan assays or following the Restriction Fragments Length Polymorphisms (RFLPs) approach. Disease activity score in 28 joints (DAS28) at baseline and after 6 months were available for all patients and analysis of good versus poor response at 6 months was performed for each SNP. None of the 7 genetic markers correlated with treatment response. We conclude that the gene polymorphisms under investigation are not strongly predictive of anti-TNF response in RA patients from Greece. © 2013 Zervou et al. Source

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